Variant report

Variant	rs5743658
Chromosome Location	chr11:71709724-71709725
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr11:71709634-71710181	GM12878	blood:	n/a	n/a
2	PML	chr11:71709459-71710304	GM12878	blood:	n/a	n/a
3	ELF1	chr11:71709564-71710167	GM12878	blood:	n/a	n/a
4	RUNX3	chr11:71709709-71710433	GM12878	blood:	n/a	n/a
5	STAT3	chr11:71709704-71709848	GM12878	blood:	n/a	n/a
6	ATF2	chr11:71709717-71710309	GM12878	blood:	n/a	n/a
7	BCL3	chr11:71709719-71710230	GM12878	blood:	n/a	chr11:71709750-71709763
8	POLR2A	chr11:71709398-71711096	GM12878	blood:	n/a	n/a
9	SPI1	chr11:71709713-71710151	GM12878	blood:	n/a	chr11:71709934-71709947
10	RUNX3	chr11:71709686-71710968	GM12878	blood:	n/a	n/a
11	SPI1	chr11:71709637-71710275	HL-60	blood:	n/a	chr11:71709934-71709947
12	MAX	chr11:71709692-71709995	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:71709687-71709931	HUVEC	blood vessel:	n/a	n/a
14	SPI1	chr11:71709680-71710127	HL-60	blood:	n/a	chr11:71709934-71709947
15	POLR2A	chr11:71709598-71711437	GM12878	blood:	n/a	n/a
16	STAT5A	chr11:71709542-71710629	GM12878	blood:	n/a	chr11:71709856-71709868
17	POLR2A	chr11:71709671-71710608	HL-60	blood:	n/a	n/a
18	NFIC	chr11:71709603-71710455	GM12878	blood:	n/a	n/a
19	SPI1	chr11:71709611-71710400	GM12878	blood:	n/a	chr11:71709934-71709947
20	POLR2A	chr11:71707765-71727247	K562	blood:	n/a	n/a
21	POLR2A	chr11:71709694-71719179	K562	blood:	n/a	n/a
22	NFATC1	chr11:71709425-71710673	GM12878	blood:	n/a	n/a
23	NFATC1	chr11:71709649-71710857	GM12878	blood:	n/a	n/a
24	MTA3	chr11:71709255-71711126	GM12878	blood:	n/a	n/a
25	SPI1	chr11:71709686-71710200	GM12891	blood:	n/a	chr11:71709934-71709947
26	POLR2A	chr11:71709687-71710455	GM12878	blood:	n/a	n/a
27	YY1	chr11:71709662-71710095	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71703508..71707371-chr11:71709245..71711101,3	K562	blood:
2	chr11:71709478..71712665-chr11:71718866..71721839,3	K562	blood:
3	chr11:71707937..71711570-chr11:71790035..71793811,3	K562	blood:

Variant related genes	Relation type
IL18BP	TF binding region
ENSG00000184154	Chromatin interaction
ENSG00000137522	Chromatin interaction
ENSG00000137497	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17161701	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17161942	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs2276383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2276385	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34075366	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35501875	0.84[EUR][1000 genomes]
rs35844388	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3750913	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3750914	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3763797	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55743841	0.84[EUR][1000 genomes]
rs55815017	0.84[EUR][1000 genomes]
rs55938043	0.80[EUR][1000 genomes]
rs55992367	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57162500	0.84[EUR][1000 genomes]
rs5743661	0.93[ASN][1000 genomes]
rs57637306	0.84[EUR][1000 genomes]
rs60057760	0.84[EUR][1000 genomes]
rs60165720	0.84[EUR][1000 genomes]
rs61745941	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7109653	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs7111712	0.87[EUR][1000 genomes]
rs7113974	0.84[EUR][1000 genomes]
rs7129814	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs72477716	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73527732	0.84[EUR][1000 genomes]
rs73544108	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71672200-71715200	Weak transcription	Fetal Brain Male	brain
2	chr11:71673600-71710800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:71674000-71710600	Weak transcription	Brain Germinal Matrix	brain
4	chr11:71677200-71736600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:71678000-71710600	Weak transcription	HMEC	breast
6	chr11:71689000-71711800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:71695200-71710600	Weak transcription	Esophagus	oesophagus
8	chr11:71695400-71709800	Weak transcription	Dnd41	blood
9	chr11:71695400-71712200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:71695400-71713000	Weak transcription	Psoas Muscle	Psoas
11	chr11:71699400-71710200	Weak transcription	NHDF-Ad	bronchial
12	chr11:71699600-71710000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:71699600-71710000	Weak transcription	NHLF	lung
14	chr11:71699600-71712400	Weak transcription	Aorta	Aorta
15	chr11:71702000-71710200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:71702200-71709800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:71702200-71710000	Weak transcription	Pancreas	Pancrea
18	chr11:71702200-71710200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:71702200-71710200	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:71702200-71712600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:71702200-71713000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:71702200-71713400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:71702200-71713800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:71702400-71710000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:71702400-71713000	Weak transcription	Fetal Kidney	kidney
26	chr11:71702800-71710000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:71702800-71710000	Weak transcription	Colonic Mucosa	Colon
28	chr11:71702800-71710000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:71702800-71711000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:71703000-71710200	Weak transcription	HSMM	muscle
31	chr11:71703000-71710800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:71703000-71712800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:71703200-71710000	Weak transcription	Liver	Liver
34	chr11:71704400-71710800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:71704600-71710400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:71704600-71710800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:71705400-71710000	Strong transcription	Fetal Stomach	stomach
38	chr11:71705400-71734400	Strong transcription	Fetal Intestine Small	intestine
39	chr11:71705600-71709800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:71705800-71710000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:71705800-71710400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:71705800-71711800	Strong transcription	HepG2	liver
43	chr11:71706000-71710000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:71706000-71712000	Weak transcription	NHEK	skin
45	chr11:71706400-71717200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:71706600-71713000	Weak transcription	NH-A	brain
47	chr11:71706600-71714600	Genic enhancers	Fetal Muscle Leg	muscle
48	chr11:71706600-71718000	Genic enhancers	Fetal Muscle Trunk	muscle
49	chr11:71707200-71710600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:71707400-71709800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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